This medical record analyzes the clinical presentation and genetic diagnosis of a child with kabuki face-spectrum syndrome,and summarizes the results of his hearing and speech rehabilitation.The child was found to have poor hearing in both ears three months after birth.Growth and development were delayed.The child carried the KMT2D c.6109+2T＞C(splicing)mutation,as well as a heterozygous SLC26A4 c.1286C＞A(Ala429Glu)mutation.Three months after boot-up,the child was able to discriminate and mimic the LAM six sounds.Five years after start-up,the SIR score was 4 and the CAP score was 6.Cochlear implant hearing thresholds ranged from 30 to 35 dB HL,and the child was enrolled in a 40-minute,twice-weekly hearing and speech parent-child program at a professional rehabilitation facility after start-up.Three years after the start-up in the increase in the intensity of rehabilitation,cognitive understanding,sensory,speech correction,hearing speech,logical thinking courses,5 days a week,45-60min a day a course.The child's long-time sound correction is easy to cause laryngitis,dozing at noon,and slow progress in learning language.Insufficient strength of sound-constituting organs,insufficiently clear articulation.After four years,the child can speak simple children's songs and daily simple conversations.
维普
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